A2T (p.Ala2Thr) variant of PCCA (P05165)
A2T (p.Ala2Thr) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 13-100089124-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available